Linked Data
ClinVar Variation Id:
31543
ClinVar RCV Id:
RCV000024250
dbSNP Id:
rs387907154
PubMed:
PMID:21477109
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24240669G>A , CM000676.2:g.24240669G>A | GRCh38 |
| NC_000014.8:g.24709875G>A , CM000676.1:g.24709875G>A | GRCh37 |
| NC_000014.7:g.23779715G>A | NCBI36 |
| NG_016650.1:g.7006C>T | |
| NG_054634.1:g.13253G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557915.2:n.1114C>T | ||
| ENST00000557921.3:c.703C>T | ENSP00000453157.3:p.Gln235Ter | |
| ENST00000699682.1:n.1201C>T | ||
| ENST00000699683.1:n.1251C>T | ||
| ENST00000699684.1:c.*404C>T | ENSP00000514523.1:n.*404C>T | |
| ENST00000699685.1:n.1015C>T | ||
| ENST00000699686.1:c.604C>T | ENSP00000514524.1:p.Gln202Ter | |
| ENST00000699687.1:c.706C>T | ENSP00000514525.1:p.Gln236Ter | |
| ENST00000699688.1:n.1011C>T | ||
| ENST00000699689.1:n.1367C>T | ||
| ENST00000699690.1:n.1564C>T | ||
| ENST00000699691.1:n.1708C>T | ||
| ENST00000699693.1:n.1228C>T | ||
| ENST00000699694.1:n.1470C>T | ||
| ENST00000699695.1:c.*183C>T | ENSP00000514526.1:n.*183C>T | |
| ENST00000699696.1:n.1114C>T | ||
| ENST00000699697.1:c.811C>T | ENSP00000514527.1:p.Gln271Ter | |
| ENST00000699698.1:n.732C>T | ||
| ENST00000699699.1:n.1135C>T | ||
| ENST00000699700.1:n.1258C>T | ||
| ENST00000699701.1:c.*191C>T | ENSP00000514528.1:n.*191C>T | |
| ENST00000267415.12:c.811C>T MANE Select | ENSP00000267415.7:p.Gln271Ter | |
| ENST00000557921.2:c.703C>T | ENSP00000453157.2:p.Gln235Ter | |
| ENST00000646753.1:c.706C>T | ENSP00000494065.1:p.Gln236Ter | |
| ENST00000267415.11:c.811C>T | ENSP00000267415.7:p.Gln271Ter | |
| ENST00000399423.8:c.811C>T | ENSP00000382350.4:p.Gln271Ter | |
| ENST00000558476.5:c.373C>T | ENSP00000452724.1:p.Gln125Ter | |
| ENST00000558566.1:c.*183C>T | ENSP00000453025.1:n.*183C>T | |
| ENST00000559019.1:c.*183C>T | ENSP00000453675.1:n.*183C>T | |
| ENST00000559549.1:n.537C>T | ||
| ENST00000559969.5:c.757+10C>T | ||
| ENST00000626689.2:c.*183C>T | ENSP00000486681.1:n.*183C>T | |
| NM_001099274.1:c.811C>T | NP_001092744.1:p.Gln271Ter | |
| NM_012461.2:c.811C>T | NP_036593.2:p.Gln271Ter | |
| XM_005267528.2:c.811C>T | XP_005267585.1:p.Gln271Ter | |
| XM_005267529.2:c.706C>T | XP_005267586.1:p.Gln236Ter | |
| NM_001099274.2:c.811C>T | NP_001092744.1:p.Gln271Ter | |
| NM_001363668.1:c.706C>T | NP_001350597.1:p.Gln236Ter | |
| NM_012461.3:c.811C>T | NP_036593.2:p.Gln271Ter | |
| XM_011536642.2:c.*191C>T | XP_011534944.1:n.*191C>T | |
| XM_017021216.2:c.169C>T | XP_016876705.1:p.Gln57Ter | |
| XM_017021217.1:c.169C>T | XP_016876706.1:p.Gln57Ter | |
| NM_001099274.3:c.811C>T MANE Select | NP_001092744.1:p.Gln271Ter | |
| NM_001363668.2:c.706C>T | NP_001350597.1:p.Gln236Ter |